Year : 2009 | Volume : 6 | Issue : 1 | Page : 14-18

Management of ambiguous genitalia in ile ife, Nigeria: Challenges and outcome

Oludayo A Sowande, Olusanya Adejuyigbe
Department of Surgery, Pediatric Surgery Unit, Obafemi, Awolowo University
Teaching Hospital, PMB 5538, Ile Ife, Osun State, Nigeria



Abstract
Background: Ambiguous genitalia are a major cause of parental anxiety and can
create social problems if not properly managed. Diagnosis and management can
however be challenging. The aim of this study is to highlight some of the
challenges in management of ambiguous genitalia in our environment.
Patients and Methods: All cases of ambiguous genitalia managed at the Paediatric
surgical unit of the Obafemi Awolowo University Teaching hospital, Ile Ife,
Nigeria, between January 1993 and October 2007 were analysed for age, sex at
presentation, investigation modality, and final sex of rearing and outcome of
surgery.
Result: Nine patients had surgical reconstruction for ambiguous genitalia during
the study period. Their age ranges from 5 weeks to 19 years at presentation. The
causes of genital ambiguity in the patients was congenital adrenal hyperplasia
(CAH) in 6, true hermaphroditism in 2 and male pseudo-hermaphroditism in 1.
Seven patients were reconstructed as females while 2 were raised as males.
Change of sex of raring was necessary in 2 patients.
Conclusion: The diagnosis and management of ambiguous genitalia is a challenging
problem in our environment. Early presentation and treatment is necessary to
avoid psychological and social embarrassment.

Keywords: Ambiguous genitalia, children, treatment

How to cite this article:
Sowande OA, Adejuyigbe O. Management of ambiguous genitalia in ile ife, Nigeria:
Challenges and outcome. Afr J Paediatr Surg 2009;6:14-8

How to cite this URL:
Sowande OA, Adejuyigbe O. Management of ambiguous genitalia in ile ife, Nigeria:
Challenges and outcome. Afr J Paediatr Surg [serial online] 2009 [cited 2009 Mar
26];6:14-8. Available from:
http://www.afrjpaedsurg.org/text.asp?2009/6/1/14/48569

Introduction
The first question that usually arises after the birth of any newborn is about
the gender of the child. This is easily answered in most cases by simple
examination of the external genitalia of the baby. Genitalia are ambiguous
whenever there is difficulty in attributing gender to a child based on the
appearance of the external genitalia. [1],[2] The appearance of the external
genitalia is a result of complex interaction between genetic and endocrine
processes during fetal development. Abnormalities of the external genitalia
sufficient to warrant genetic and endocrine studies is said to occur in 1 in
4,500-10,000 births. [3],[4] Ambiguous genitalia are a major cause of parental
anxiety and can create psychological and social problems if not properly
managed. Also life threatening conditions such as salt wasting crisis of
congenital adrenal hyperplasia (CAH) need to be detected and treated early. [5]
Diagnosis and management of this condition can be challenging requiring a
multidisciplinary approach. [6]

There has been considerable progress in diagnosis and management in recent
decades especially in CAH. [3] This is the commonest cause of ambiguous
genitalia of the newborn and can now be suspected and treated from in utero .

There is presently a paucity of information on the challenges and outcome of
management of ambiguous genitalia in our environment. The aim of this study is
to document and highlight the challenges in diagnosis and management of
ambiguous genitalia in a cohort of Nigerian children seen at a teaching hospital
in South Western Nigeria.

Patients and Methods
This is an analysis of cases of ambiguous genitalia managed at the Obafemi
Awolowo University Teaching hospital, Ile Ife, Nigeria between January 1993 and
October 2007. The patients were analysed for age, sex at presentation,
investigation modality, and final sex of rearing and outcome of surgery. Barr
body evaluation, sonogram, mini-laparotomy and cystoscopy were the main methods
of evaluation while hormonal assay was requested if patient can afford it.
Surgical reconstruction is embarked upon after dialogues with parents especially
in cases requiring change of sex of raring [Figure 1] and [Figure 2].

Result
Ten patients were seen with ambiguous genitalia during the study period but only
9 patients had surgical reconstruction for ambiguous genitalia. The median age
at presentation was 3 years. None of the patient presented in the neonatal
period. The earliest presentation was 5 weeks while the oldest was 19 years.
Presenting features were abnormal looking genitalia since birth in 7 patients.
Clitorimegaly was noticed at 2 and ½ years and 3 years in 2 patients who are
siblings and whose mother had been on fertility drugs prior to their conception.
There were 2 patients who are a set of twins. The oldest patient in this series
had gynaecomastia noticed since puberty.

All patients had routine haematological investigations done which were normal.
None of the patients had karyotyping done because it was not available; however,
Barr body examination was positive in three patients who ultimately turned out
to be female. Most of the patients were not able to afford biochemical hormonal
assay but 2 patients who had the investigation was inconclusive although the
patients were thought to have congenital adrenal hyperplasia. Diagnosis was
based mainly on demonstration of the internal genitalia. Ultrasound was done in
8 patients but the findings correlated with laparotomy findings in only three
while in 2, the presence of uterus and adnexiae was suggested but was absent at
laparotomy. In the other 3 patients the preliminary ultrasound was inconclusive.
In all, seven patients ultimately required laparotomy and another one
laparoscopy to define the internal genitalia [Table 1]. Two of the patients had
suspicious gonads on laparotomy and these were biopsied. Their histology
confirmed ovotestis. The gonadal biopsy result changed the diagnosis from CAH in
one of the patient to true hermaphroditism.

The final diagnosis of the causes of genital ambiguity in the patients was CAH
in 6, true hermaphroditism in 2 and male pseudo-hermaphroditism in 1. Seven
patients were reconstructed as females while 2 were raised as males. Change of
sex of raring was necessary in 2 patients. These two patients had change of name
while one of the parents had to relocate.

Discussion
Children born with the intersex problem comprise about 1.7% of all live births.
[7] The incidence of this condition in the African population is unknown.

Ambiguity of the external genitalia is easily recognised at birth and the
apparent sex of rearing will be obvious. [8] The general consensus is that the
diagnosis should be promptly established preferably before discharge so that an
early sex of raring can be assigned to the child as well as to plan treatment.
[1],[2] This aspect of the patient's management is important to facilitate
psychological development and good quality of life in the affected individuals.
Assigning a sex of raring to the child requires that elaborate investigation be
done to ascertain the genetic or endocrine causes of the anomaly. This early
part of the child's management should ideally be a multidisciplinary approach.
In many institutions in developed world, there are joint clinics established for
the management of these patients where collective decisions are made concerning
each patient. [6],[9] This type of clinic is not present in our own part of the
world therefore each patient does not have that benefit.

Investigating a child with ambiguous genitalia requires both genetic and
hormonal studies to establish the diagnosis and plan appropriate treatment. A
fast buccal smear for the presence of the extra X-chromosome will help in
establishing a suspicion of the chromosomal constitution of the individual. This
test has however been found to be unreliable and cannot be solely relied upon.
Karyotyping an important early test using cultured leucocytes is not available
in our hospitals and so cannot be used.

There are a myriad of hormonal assay that assist the clinician in establishing
diagnosis of ambiguous genitalia including serum testosterone, DHT,
gonadotropins and adrenal steroids such as
17-hydroxyprogesterone,17-hydroxypregnenalone, androstenedione and
dehydroepiandrosterone (DHEAS) and 11-hydroxycortisone, mullerian inhibiting
substance (MIS). These hormonal assays are very expensive and can barely be
afforded by the patients. Only 2 of our patients had enough money to go for
hormonal assay but the results were not helpful in the twins who are suspected
to have adrenogenital syndrome. Specific assay for enzymes such as 5 alpha
reductase, 21-hydroxylase are available in developed countries. All these are
not available in Nigeria.

In our environment, the incidence of these anomalies is unknown. It is obvious
that the cases of suspected CAH that we see in our setting are the non salt
wasting type as most of these ones may have succumbed at birth or in the
perinatal period. Nowadays cases of CAH are diagnosed in utero especially if
there is a previous or family history of the disease. Chorionic villous sampling
during the first trimester or amniotic fluid sampling will help to establish the
diagnosis. These patients are given dexamethasone in utero before the period of
sexual differentiation thereby reducing the chance of genital ambiguity. Two of
the patients we have managed are siblings and there is the possibility that
there is a genetic disorder in these patients although there was also a positive
history of maternal ingestion of fertility drugs which may be progestogens
during pregnancy with these children. It is also interesting that two of the
patients are also twins in which case a genetic predisposition or enzyme
deficiency was very likely. There are no facilities to determine the specific
enzyme deficiency in these patients.

In our setting, late presentation seems to be the case as only one of the
patient presented early. Late presentation can lead to a myriad of problem in
the subsequent management of these patients as wrong assignment of sex can lead
to serious consequences in the future. Even where correct sex of rearing has
been done, long-term psychopathologic disorders including gender identity
disorder and deviant gender role may develop. [10] Two of our patients require
that the sex of raring be changed because the final diagnosis dictated that the
appropriate genital reconstruction be done. A similar case of sex conversion in
a 21 year old patient has been reported from the eastern part of Nigeria. [11]
In general, the assignment of sex for rearing must be guided by the etiology of
the genital malformation, the anatomic condition, and family considerations. [6]
Recognition of parental acceptance is a fundamental determinant of success of
any management strategy in the case of intersex children is critical. [8]

In conclusion, the management of a child with ambiguous genitalia is a
challenging problem in our environment. Early presentation and treatment is
necessary to avoid psychological and social embarrassment. The ability to do
this is limited in most resource limited areas. Continue reliance on history,
physical examination, and limited investigative facilities available will
continue to be the only reliable mean of diagnosis and management.

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Correspondence Address:
Oludayo A Sowande
Department of Surgery, Paediatric Surgery Unit, Obafemi Awolowo University
Teaching Hospital, PMB 5538, Ile Ife, Osun State
Nigeria


Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0189-6725.48569


Figures
[Figure 1], [Figure 2]

Tables

[Table 1]